Parry romberg syndrome
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《美国医学杂志》
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi-110029, India
Through this communication, we would like to present an interesting case of progressive facial hemiatrophy who presented to our Outpatient Department. Progressive facial hemiatrophy also known as Parry Romberg syndrome is characterized by a progressive but self-limited atrophy of skin and subcutaneous tissue on one side of the face,[1] which may be associated with various neurological, ophthalmic and cutaneous abnormalities. A 11-year-old male child presented with marked wasting of the right side of the face. The wasting had its onset at the age of 6 years, progressed gradually over 3 years and was static for the last 2 years. There was no history of drooling or difficulty in closure of eyes, limb weakness, seizures or headache. There was no history of facial trauma, rash or joint pain and no family history of similar lesion. On examination, the child had marked wasting of the right side of face with exaggerated temporal hollow, right enophthalmos and striking bony prominence Figure1Figure2. The skin of the right half of face appeared taut and shiny but there was no pigmentation abnormality and no associated alopecia or graying of hair. There was no other area of localized subcutaneous tissue atrophy, hyperpigmentation or vitiligo. The neck, trunk and limbs were symmetrical. There was no evidence of VIIth nerve weakness. The tongue was normal with no atrophy or fasciculation. Bilateral visual acuity, visual fields and optic fundi were normal. Rest of the Central Nervous system examination was also within normal limits. There was no autonomic disturbance on the affected side.
On investigation, the child was found to have normal liver and kidney function tests, blood sugar and lipid profile. Antinuclear antibodies were present with a titer of 1:40. Ultrasonography of abdomen did not reveal any asymmetry of internal organs. CT scan of head and paranasal sinuses was normal.
Progressive facial hemiatrophy involves slowly progressive but self limited atrophy of facial subcutaneous fat, which can be followed by wasting of associated skin, cartilage, connective or ocular tissue, muscle and bone. The onset is insidious with the symptoms usually beginning in the first or second decade of life onset. Progression of the disease is rapid in the two to ten years following onset and then stabilizes. The disease is commoner in females and is usually sporadic. Fifteen percent of the patients have associated neurological disorders attributable to ipsilateral cerebral hemispheric dysfunction. These include migraine, seizures, cranial nerve deficits, masticatory spasms, cognitive abnormalities and fixed focal deficits[2].
Other associations with the syndrome include pigment changes, vitiligo, nevi and hyperpigmented areas on the affected side, alopecia and change from normal hair color to white. Ophthalmic defects such as ipsilateral Horner's syndrome, blepharophimosis, chronic cyclitis, iritis, cataract and secondary glaucoma may occur. Oral manifestations like hemiatrophy of the lips, tongue, jaws and buccal fat pad may be present. Our patient had only progressive facial hemiatrophy with none of the associated abnormalities.
Various theories have been proposed to explain the pathophysiology of this rare disorder. The trigeminal theory postulates that vascular insult to the trigeminal ganglia, perhaps due to trauma to the superior cervical ganglia, triggers off of the wasting process leading to hemiatrophy. Some consider it as an autoimmune disorder but autoantibodies are not present consistently in all patients. Chronic localized meningoencephalitis, lipodystrophy, slow viral infections and disturbances of angiogenesis during growth and development have all been proposed.[3]
Diagnosis is based on the clinical picture. Investigations are non-specific. The affected tissues are atrophic with little evidence of inflammation.[4] Neuroradiological imaging may reveal calcifications and ipsilateral hemiatrophy. Rarely other findings such as cortical dysgenesis, meningocortical dysmorphism, vascular anomalies, porencephaly, hamartomas and intracranial aneurysms may be present on the ipsilateral side. Ultrasonography may reveal atrophy of ipsilateral internal organs. Antinuclear factor is present in some patients as was seen in our patient. There is no definite treatment except plastic surgery to ameliorate cosmetic disfigurement.[5]
References
1. Padmini P, Singhi PD. Facial Hemiatrophy. Indian Pediatrics 1992; 29 : 505-507.
2. Bathi RJ, Patil PB, Naikmasur VG. Progressive hemifacial atrophy (Parry-Romberg sundrome). QJM 2001; 32(10) : 820-821.
3. Cory RC, Clayman DA, Faillance WJ, Shaun WM, Gana CH. Clinical and radiological findings in progressive hemifacial atrophy (Parry-Romberg disease). Am J Neuroradiol 1997; 18: 751-757.
4. Pichiecchio A, Uggeti C, Egitto MC, Zappoli F. Parry-Romberg syndrome with migraine and intracranial aneurysm. Neurology 2002; 59 : 606-608.
5. Koshy CE, Evans J. Facial contour reconstruction in localized lipodystrophy using free radial forearm adipofascial flaps. British J of Plastic Surgery 1995;51:499-502.(Gulati Sheffali, Jain Van)
Through this communication, we would like to present an interesting case of progressive facial hemiatrophy who presented to our Outpatient Department. Progressive facial hemiatrophy also known as Parry Romberg syndrome is characterized by a progressive but self-limited atrophy of skin and subcutaneous tissue on one side of the face,[1] which may be associated with various neurological, ophthalmic and cutaneous abnormalities. A 11-year-old male child presented with marked wasting of the right side of the face. The wasting had its onset at the age of 6 years, progressed gradually over 3 years and was static for the last 2 years. There was no history of drooling or difficulty in closure of eyes, limb weakness, seizures or headache. There was no history of facial trauma, rash or joint pain and no family history of similar lesion. On examination, the child had marked wasting of the right side of face with exaggerated temporal hollow, right enophthalmos and striking bony prominence Figure1Figure2. The skin of the right half of face appeared taut and shiny but there was no pigmentation abnormality and no associated alopecia or graying of hair. There was no other area of localized subcutaneous tissue atrophy, hyperpigmentation or vitiligo. The neck, trunk and limbs were symmetrical. There was no evidence of VIIth nerve weakness. The tongue was normal with no atrophy or fasciculation. Bilateral visual acuity, visual fields and optic fundi were normal. Rest of the Central Nervous system examination was also within normal limits. There was no autonomic disturbance on the affected side.
On investigation, the child was found to have normal liver and kidney function tests, blood sugar and lipid profile. Antinuclear antibodies were present with a titer of 1:40. Ultrasonography of abdomen did not reveal any asymmetry of internal organs. CT scan of head and paranasal sinuses was normal.
Progressive facial hemiatrophy involves slowly progressive but self limited atrophy of facial subcutaneous fat, which can be followed by wasting of associated skin, cartilage, connective or ocular tissue, muscle and bone. The onset is insidious with the symptoms usually beginning in the first or second decade of life onset. Progression of the disease is rapid in the two to ten years following onset and then stabilizes. The disease is commoner in females and is usually sporadic. Fifteen percent of the patients have associated neurological disorders attributable to ipsilateral cerebral hemispheric dysfunction. These include migraine, seizures, cranial nerve deficits, masticatory spasms, cognitive abnormalities and fixed focal deficits[2].
Other associations with the syndrome include pigment changes, vitiligo, nevi and hyperpigmented areas on the affected side, alopecia and change from normal hair color to white. Ophthalmic defects such as ipsilateral Horner's syndrome, blepharophimosis, chronic cyclitis, iritis, cataract and secondary glaucoma may occur. Oral manifestations like hemiatrophy of the lips, tongue, jaws and buccal fat pad may be present. Our patient had only progressive facial hemiatrophy with none of the associated abnormalities.
Various theories have been proposed to explain the pathophysiology of this rare disorder. The trigeminal theory postulates that vascular insult to the trigeminal ganglia, perhaps due to trauma to the superior cervical ganglia, triggers off of the wasting process leading to hemiatrophy. Some consider it as an autoimmune disorder but autoantibodies are not present consistently in all patients. Chronic localized meningoencephalitis, lipodystrophy, slow viral infections and disturbances of angiogenesis during growth and development have all been proposed.[3]
Diagnosis is based on the clinical picture. Investigations are non-specific. The affected tissues are atrophic with little evidence of inflammation.[4] Neuroradiological imaging may reveal calcifications and ipsilateral hemiatrophy. Rarely other findings such as cortical dysgenesis, meningocortical dysmorphism, vascular anomalies, porencephaly, hamartomas and intracranial aneurysms may be present on the ipsilateral side. Ultrasonography may reveal atrophy of ipsilateral internal organs. Antinuclear factor is present in some patients as was seen in our patient. There is no definite treatment except plastic surgery to ameliorate cosmetic disfigurement.[5]
References
1. Padmini P, Singhi PD. Facial Hemiatrophy. Indian Pediatrics 1992; 29 : 505-507.
2. Bathi RJ, Patil PB, Naikmasur VG. Progressive hemifacial atrophy (Parry-Romberg sundrome). QJM 2001; 32(10) : 820-821.
3. Cory RC, Clayman DA, Faillance WJ, Shaun WM, Gana CH. Clinical and radiological findings in progressive hemifacial atrophy (Parry-Romberg disease). Am J Neuroradiol 1997; 18: 751-757.
4. Pichiecchio A, Uggeti C, Egitto MC, Zappoli F. Parry-Romberg syndrome with migraine and intracranial aneurysm. Neurology 2002; 59 : 606-608.
5. Koshy CE, Evans J. Facial contour reconstruction in localized lipodystrophy using free radial forearm adipofascial flaps. British J of Plastic Surgery 1995;51:499-502.(Gulati Sheffali, Jain Van)